Canonical Allele Identifier: CA374889296

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124500950-C-T
• MyVariant Identifiers: chr9:g.127263229C>T (hg19) ; chr9:g.124500950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500950C>T , CM000671.2:g.124500950C>T	GRCh38
NC_000009.11:g.127263229C>T , CM000671.1:g.127263229C>T	GRCh37
NC_000009.10:g.126303050C>T	NCBI36
NG_008176.1:g.11471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-235G>A MANE Select	ENSP00000362690.4:n.245-235G>A
ENST00000373587.3:c.37G>A	ENSP00000362689.3:p.Glu13Lys
ENST00000373588.8:c.245-235G>A	ENSP00000362690.4:n.245-235G>A
ENST00000455734.1:c.245-235G>A	ENSP00000393245.1:n.245-235G>A
ENST00000620110.4:c.245-235G>A	ENSP00000483309.1:n.245-235G>A
NM_004959.4:c.245-235G>A	NP_004950.2:n.245-235G>A
XM_005251871.2:c.245-235G>A	XP_005251928.1:n.245-235G>A
XM_005251872.3:c.-17-235G>A	XP_005251929.1:n.-17-235G>A
XM_011518455.1:c.245-235G>A	XP_011516757.1:n.245-235G>A
XM_011518456.1:c.245-235G>A	XP_011516758.1:n.245-235G>A
NM_004959.5:c.245-235G>A MANE Select	NP_004950.2:n.245-235G>A